Orpha Number: 221150
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ]
|
0000735 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Severe global |
0011344 | |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
| 30%-79% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Chronic constipation |
Infrequent bowel movements
|
0012450 |
| Epileptic |
0200134 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Hyperventilation |
Rapid breathing
|
0002883 |
| 0001250 | ||
| Sleep-wake cycle disturbance | 0006979 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| 5%-29% of people have these symptoms | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
| 0000717 | ||
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad-based gait |
Wide based walk
|
0002136 |
| Bruxism |
Teeth grinding
|
0003763 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Cerebral white matter hypoplasia | 0012430 | |
| Cow milk allergy |
Milk allergy
|
0100327 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Drooling |
Dribbling
|
0002307 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Flat occiput | 0005469 | |
| Frontal bossing | 0002007 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Gluten intolerance |
Gluten sensitivity
|
0012538 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| High anterior hairline |
High frontal hairline
|
0009890 |
| High-pitched cry | 0025430 | |
| Hyperactivity |
More active than typical
|
0000752 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Hypsarrhythmia | 0002521 | |
| Infra-orbital crease |
Crease in skin under the eye
Groove in skin under the eye
[ more ]
|
0100876 |
| Long philtrum | 0000343 | |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Perivascular spaces | 0012520 | |
| Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Poor speech | 0002465 | |
| Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
| Prominent glabella |
Prominent area between the eyebrows
Protruding area between the eyebrows
[ more ]
|
0002057 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| 0002650 | ||
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Tricuspid regurgitation | 0005180 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Constipation | 0002019 | |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ]
|
0010808 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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